Norma Romero

Norma Romero

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Norma Romero

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Postpartum use of oxytocin and volume of placental transfusion: a randomised controlled trial.

Arch Dis Child Fetal Neonatal Ed 2020 Jan 9;105(1):14-17. Epub 2019 May 9.

Fundasamin, Buenos Aires, Argentina.

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http://dx.doi.org/10.1136/archdischild-2018-316649DOI Listing
January 2020

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

J Neuromuscul Dis 2020 ;7(1):69-76

Basic and Translational Myology Laboratory, Unité de Biologie Fonctionnelle et Adaptative (BFA), UMR 8251, CNRS/ Université de Paris, Paris, France.

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http://dx.doi.org/10.3233/JND-190413DOI Listing
January 2020

[PYROXD1-related myopathy].

Med Sci (Paris) 2019 Nov 20;35 Hors série n° 2:43-44. Epub 2019 Dec 20.

IGBMC, Inserm U1258, CNRS UMR7104, Illkirch, France.

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http://dx.doi.org/10.1051/medsci/2019183DOI Listing
November 2019

Novel mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.

J Med Genet 2019 09 16;56(9):617-621. Epub 2018 Oct 16.

Departement of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105390
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http://dx.doi.org/10.1136/jmedgenet-2018-105390DOI Listing
September 2019

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Neuromuscul Disord 2019 09 19;29(9):678-683. Epub 2019 Jun 19.

APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966193014
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http://dx.doi.org/10.1016/j.nmd.2019.06.009DOI Listing
September 2019

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

Eur J Hum Genet 2019 03 5;27(3):337-339. Epub 2018 Oct 5.

APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://www.nature.com/articles/s41431-018-0250-z
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http://dx.doi.org/10.1038/s41431-018-0250-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460556PMC
March 2019

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Muscle Nerve 2019 01 16;59(1):137-141. Epub 2018 Dec 16.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.26305DOI Listing
January 2019

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Neurology 2018 07 27;91(4):e339-e348. Epub 2018 Jun 27.

From the Unidad de Enfermedades Neuromusculares, Department of Neurology (M.C.-S., C.P.), Instituto de Biomedicina de Sevilla (IBiS) (M.C.-S., F.M., C.P.), and Department of Pathology, Neuropathology Unit (E.R.), Hospital Universitario Virgen del Rocío, Sevilla, Spain; Laboratoire Diagnostic Génétique (V.B.), Faculté de Médecine-CHRU, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (V.B., R.Á., J.L.), Illkirch, France; Harry Perkins Institute of Medical Research and Centre for Medical Research (B.M., N.G.L., L.K.), University of Western Australia, Nedlands; Department of Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre, Madrid Research Institute; Neuropathology Unit (M.O.), Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Department of Neurology and IIS La Fe (N.M., J.J.V.), Hospital Universitari i Politècnic La Fe, Valencia; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (N.M., J.D.-M., J.J.V.); Department of Neurology (E.K.), Consulta de Enfermedades Neuromusculares y Unidad de ELA, Hospital General Universitario Santa Lucía, Cartagena, Murcia; Department of Neurology (A.C.), Hospital Virgen de las Nieves, Granada; Department of Neurology (P.Q.), Hospital Torrecárdenas, Almería; Unidad de Enfermedades Neuromusculares (J.D.-M.), Department of Neurology, Universidad Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Perth, Australia; Department of Neurology (C.D.), Hospital 12 de Octubre, Madrid, Spain; Unité de Morphologie Neuromusculaire (N.B.R.), Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris; Université Sorbonne (N.B.R.), UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Medicine (J.J.V.), Universitat de Valencia; Department of Experimental and Health Sciences (D.C.), Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain; Centre National de la Recherche Scientifique (J.L.), UMR7104, Illkirch; and Institut National de la Santé et de la Recherche Médicale (J.L.), U964, Illkirch, France.

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http://dx.doi.org/10.1212/WNL.0000000000005862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070382PMC
July 2018

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Muscle Nerve 2018 05 22;57(5):E122-E124. Epub 2017 Dec 22.

Myology Institute, Neuromuscular Pathology Reference Center, Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Univ Paris 06, Paris, France.

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http://dx.doi.org/10.1002/mus.26030DOI Listing
May 2018

Diseases of the skeletal muscle.

Handb Clin Neurol 2017 ;145:429-451

Neuromuscular Morphology Unit and Neuromuscular Pathology Reference Center Paris-Est, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/B978-0-12-802395-2.00030-4DOI Listing
January 2018

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Muscle Nerve 2017 Dec 10;56(6):1096-1100. Epub 2017 Apr 10.

APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.

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http://doi.wiley.com/10.1002/mus.25608
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http://dx.doi.org/10.1002/mus.25608DOI Listing
December 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.

Neurol Genet 2017 Dec 18;3(6):e208. Epub 2017 Dec 18.

Assistance Publique-Hôpitaux de Paris (APHP) (R.B.Y., B.E., P.L.), Groupe Hospitalier Universitaire la Pitié-Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie; Sorbonne Universités (R.B.Y., I.N., M.B., G.B.), UPMC Université Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Paris; Department of Molecular Genetics (A.H., F.P., F.M.P.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Clamart; Department of Pediatrics (A.H., P.L.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Referal Center for Metabolic Liver Inherited Diseases, Clamart, and Université Paris-Sud, France; Department of Neurology (J.R.D., T.K., J.V.), Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen; Department of Neurology (D.G.), Odense University Hospital, Denmark; Hospices Civils de Lyon (N.S.), Groupement Hospitalier Est, Centre de Pathologie et Neuropathologie Est, Service de Neuropathologie, Université Claude-Bernard Lyon 1, CNRS UMR5239, LBMC, ENS; AP-HM, Département de Génétique Médicale (M.K., M.C., M.B.), Hôpital Timone Enfants; Aix Marseille Université (M.K., M.C., M.B.), Inserm, GMGF, UMR_S910; Hospices Civils de Lyon (P.P.), Hôpital la Croix-Rousse, Département de Neurologie, Université Claude Bernard Lyon 1; CHU Besançon (F.M.), Hôpital Jean Minjoz, Centre de Référence de Pathologie Neuromusculaire; Unité de morphologie neuromusculaire (E.M., N.R.), Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Université Paris 06; Assistance Publique-Hôpitaux de Paris (APHP) (R.Y.C.), Service d'imagerie Médicale, CIC-IT Handicap, Hôpital Raymond Poincaré, Garches, France; and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306PMC
December 2017

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

Neuromuscul Disord 2017 Feb 11;27(2):188-192. Epub 2016 Nov 11.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain; Centro de Investigación Biomédica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.nmd.2016.11.002DOI Listing
February 2017

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Neuromuscul Disord 2017 Jan 14;27(1):78-82. Epub 2016 Oct 14.

Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.10.006DOI Listing
January 2017

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.

Neurology 2017 01 21;88(4):414-416. Epub 2016 Dec 21.

From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.

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http://dx.doi.org/10.1212/WNL.0000000000003535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272967PMC
January 2017

[About the technique of muscle biopsy (III). The contribution of elctron microscopy, yesterday, and at the time of the molecular genetics era. A historical overview].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:6-9. Epub 2016 Nov 21.

Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1051/medsci/201632s202DOI Listing
November 2016

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Neuromuscul Disord 2016 10 29;26(10):712-716. Epub 2016 Jul 29.

I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.011DOI Listing
October 2016

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.005DOI Listing
October 2016

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Muscle Nerve 2016 08 22;54(2):192-202. Epub 2016 Feb 22.

Assistance Publique des Hôpitaux de Paris, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Université de Versailles-St Quentin, U1179 UVSQ-INSERM, France.

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http://dx.doi.org/10.1002/mus.25018DOI Listing
August 2016

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

J Neuromuscul Dis 2016 03;3(1):111-114

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.3233/JND-150125DOI Listing
March 2016

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

Neurology 2015 Dec 18;85(24):2126-35. Epub 2015 Nov 18.

From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 2015

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Muscle Nerve 2015 Nov 18;52(5):895-9. Epub 2015 Jun 18.

UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.24699DOI Listing
November 2015

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Eur J Med Genet 2015 Oct 25;58(10):556-61. Epub 2015 Sep 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.009DOI Listing
October 2015

Acute rhabdomyolysis and inflammation.

J Inherit Metab Dis 2015 Jul 17;38(4):621-8. Epub 2015 Mar 17.

Institut Imagine, Institut National de la Santé et de la Recherche Médicale, Unité 1163, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9827-7DOI Listing
July 2015

A novel technique for diaphragm biopsies in human patients.

J Surg Res 2015 Jun 19;196(2):395-8. Epub 2015 Mar 19.

Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1158, Neurophysiologie Respiratoire Expérimentale et Clinique, Paris, France; INSERM, UMR_S 1158, Neurophysiologie Respiratoire Expérimentale et Clinique, Paris, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Service de Pneumologie et Réanimation Médicale (Département "R3S"), Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jss.2015.02.057DOI Listing
June 2015

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.

J Neuromuscul Dis 2015 Jun;2(2):175-180

APHP, Centre de Référence des Maladies Neuromusculaires Paris Est, Unité de Morphologie Neuromusculaire, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, -83, bld de l'hôpital, Paris cedex 13, France.

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http://dx.doi.org/10.3233/JND-140060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271460PMC
June 2015

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.

Neuromuscul Disord 2015 Apr 13;25(4):345-8. Epub 2015 Jan 13.

Department of Pathology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2015.01.001DOI Listing
April 2015

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Ann Neurol 2014 Dec 31;76(6):891-8. Epub 2014 Oct 31.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden; Myology Institute, Neuromuscular Morphology Unit, Pierre and Marie Curie University, Pitié-Salpêtrière University Hospital Group, Sorbonne Universities, Paris, France.

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http://dx.doi.org/10.1002/ana.24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348070PMC
December 2014

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

J Med Genet 2014 Dec 17;51(12):824-33. Epub 2014 Oct 17.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102623DOI Listing
December 2014

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

Neurology 2014 Dec 5;83(23):2133-9. Epub 2014 Nov 5.

From the Departments of Neurology (N.C.V., B.G.v.E.) and Pathology (M.L.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Internal Medicine (O.B.), Hôpital Pitié Salpêtrière, UPMC, U974, DHU I2B, Paris, France; Department of Hematology (M.C.M., H.L.), University Medical Center Utrecht, the Netherlands; Department of Pathology (M.L.), Antwerp University Hospital, University of Antwerp, Edegem; Departments of Internal Medicine (W.M.) and Hematology (M.D.), University Hospital Leuven, Belgium; Neurology Service (T.K., J.N.), Lausanne University Hospital CHUV, Lausanne; Department of Medical Oncology (T.P.), University Hospital Bern, Switzerland; Electromyography and Neuromuscular Pathologies Department Lyon Est (F.B.), Bron Hospitals, France; Departments of Pathology (N.R.) and Neurology (B.E.), Hôpital Pitié Salpêtrière, Myology Institute, Paris; Department of Hematology (V.L., P.v.d.B.), Hôpital Pitié Salpêtrière, UPMC Univ Paris 6 GRC 11 GRECHY, Paris, France; Neuromuscular Reference Centre, Department of Neurology (V.L., P.v.d.B.), and Department of Hematology (M.C.V.), Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000001047DOI Listing
December 2014

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

EMBO Mol Med 2014 Nov;6(11):1455-75

Myology Group, UMR S 787 INSERM, Université Pierre et Marie Curie Paris 6, Paris, France Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal

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http://dx.doi.org/10.15252/emmm.201404436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237471PMC
November 2014

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

PLoS Genet 2014 Nov 13;10(11):e1004711. Epub 2014 Nov 13.

INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, Paris, France.

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http://dx.doi.org/10.1371/journal.pgen.1004711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230727PMC
November 2014

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

J Neurol Neurosurg Psychiatry 2014 Oct 14;85(10):1149-52. Epub 2014 May 14.

Department of Translational Medicine and Neurogenetics, IGBMC, Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France Université de Strasbourg, Illkirch, France Collège de France, chaire de génétique humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jnnp-2013-306754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173876PMC
October 2014

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.

Medicine (Baltimore) 2014 May;93(3):150-7

From the AP-HP, Hôpital Pitié-Salpêtrière, Department of Internal Medicine 1 and Inflammation-Immunopathology-Biotherapy Department (I2B), East Paris Neuromuscular Diseases Reference Center, Inserm U974, Université Pierre et Marie Curie, Paris 6, Paris (YA, AR, SH, O. Benveniste); Inserm, U905, Immunology Department, Normandie Univ, IRIB and Rouen University Hospital (LD, FJ, JM, O. Boyer); AP-HP, Hôpital Pitié-Salpêtrière, Department of Immunochemistry, Université Pierre et Marie Curie, Paris 6, Paris (JLC, LM); AP-HP, Hôpital Pitié-Salpêtrière, Institute of Myology, Unite de Morphologie Musculaire, CNRS-UMR7215, Paris (NBR); AP-HP, Hôpital Pitié-Salpêtrière, Department of Neuropathology, Université Pierre et Marie Curie, Paris 6, Paris (TM, OD); AP-HP, Hôpital Pitié-Salpêtrière, Department of Neurology, East Paris Neuromuscular Diseases Reference Center, Université Pierre et Marie Curie, Paris 6, Paris (AB, PL, TS, BE); AP-HP, Hôpital Cochin Centre de Référence Maladies Auto-Immunes et Systémiques Rares, Service de Médecine Interne Pôle Médecine, Université René Descartes Paris V, Paris (NCC, BT); APHM, Hôpital la Timone, Centre de Référence des Maladies Neuromusculaires, Marseille (ECS); Clermont-Ferrand University Hospital, Department of Rheumatology, Clermont-Ferrand (AT); AP-HP, Hôpital Necker, Department of Paediatric Rheumatology, Paris (BBM); AP-HP, Hôpital Bicêtre, Department of Paediatric Rheumatology, Kremlin-Bicêtre, Paris (IKP); CHU Strasbourg, Department of Rheumatology, Strasbourg (JS); Hôpital Pitié-Salpêtrière, Institute of Myology, Paris (LS); AP-HP, Hôpital Jean Verdier, Department of Internal Medicine, La Seine-Saint-Denis (OF); AP-HP, Hôpital Avicenne, Department of Internal Medicine, Bobigny (CL); CHRU Tours, Department of Internal Medicine, Tours (ED); Fondation A. de Rothschild, Department of Neurology, Paris (RDP); AP-HP, Hôpital Bichat, Department of Internal Medicine, Paris (AD); CHU Rennes,

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http://dx.doi.org/10.1097/MD.0000000000000028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632910PMC
May 2014

POLG mutations associated with remitting/relapsing neurological events.

J Clin Neurosci 2014 Jan 2;21(1):186-8. Epub 2013 Jul 2.

Service de Neurologie et Faculté de Médecine, Université Champagne-Ardenne CHU de Reims, Reims, France; Laboratoire de psychopathologie et Neuropsychologie, EA2027 Université Paris, France.

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http://dx.doi.org/10.1016/j.jocn.2013.03.019DOI Listing
January 2014

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Neuromuscul Disord 2013 Dec 4;23(12):998-1009. Epub 2013 Sep 4.

Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle Épinière (CRICM), Groupe hospitalier Pitié-Salpêtrière, Paris, France; Université Pierre et Marie Curie Paris 6, UMRS975, Paris, France; CNRS, UMR7225, Paris, France; Ecole Pratique des Hautes Etudes, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2013.07.005DOI Listing
December 2013

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Neuromuscul Disord 2013 Dec 2;23(12):992-7. Epub 2013 Oct 2.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences, University of Siena, Siena, Italy; Inserm, U974, Paris F-75013, France; Université Pierre et Marie Curie-Paris 6, UM 76, CNRS, UMR 7215, Institut de Myologie, IFR14, Paris F-75013, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966130054
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http://dx.doi.org/10.1016/j.nmd.2013.07.003DOI Listing
December 2013

Recent advances in nemaline myopathy.

Curr Opin Neurol 2013 Oct;26(5):519-26

Institut de Myologie, Groupe Hospitalier-Universitaire La Pitié-Salpêtrière, AP-HP, UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, Paris, France.

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http://dx.doi.org/10.1097/WCO.0b013e328364d681DOI Listing
October 2013

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Brain Behav 2013 Jul 19;3(4):476-86. Epub 2013 Jun 19.

Unité de Morphologie Neuromusculaire, Institut de Myologie GHU La Pitié-Salpêtrière, Paris, France ; Groupe Hospitalier-Universitaire La Pitié-Salpêtrière, AP-HP, Centre de référence des maladies neuromusculaires Paris-Est, Paris, France ; UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, Institut de Myologie GHU La Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/brb3.147
Publisher Site
http://dx.doi.org/10.1002/brb3.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686PMC
July 2013